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Biochem V > Molecular Medicine > Flashcards

Molecular Medicine Flashcards

1
Q

How does indirect detection function?

A

follow the inheritance of a marker closely tied to a mutated allele

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2
Q

WES?

A

whole exome sequencing

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3
Q

WGS?

A

whole genome sequencing

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4
Q

Can sequencing differentiate between maternal and paternal chromosomes?

A

no

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5
Q

CNV?

A

copy number variation

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6
Q

What are the two techniques used to detect copy number variations?

A

comparative genome hybridization and FISH

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7
Q

ASO?

A

allele specific oligonucleotide

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8
Q

What are ASOs used to detect?

A

SNPs and mutations

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9
Q

What is the most common gene to be mutated to produce sickle cell anemia?

A

beta-globin

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10
Q

Malignant hyperthermia syndrome features what defective protein?

A

ryanodine receptor

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11
Q

What are the two sources of DNA for prenatal screening?

A

amniotic fluid and chorionic villus

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12
Q

What two bills (laws) protect against genetic discrimination?

A

HIPPA and GINA

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13
Q

What cells produce antibodies?

A

B-lymphocytes

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14
Q

What are polyclonal antibodies?

A

recognize multiple epiitopes of an antigen

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15
Q

A hybridoma cell line consists of a fusion of what two cell types?

A

myeloma and B-lymphocyte

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16
Q

What is the function of ELISA?

A

to detect and quantify antigens in vitro

17
Q

What three proteins are often detected in ELISA?

A

PTH, Hba1C, CRP

18
Q

An indirect ELISA is used to detect the presense of what?

A

antibodies

19
Q

Indirect ELISA is used to detect which two diseases?

A

HIV and autoimmune diseases

20
Q

Rheumatoid arthritis is an autoimmune disease against what?

A

IgG

21
Q

What is CNV?

A

copy number variation

22
Q

What two techniques are used to detect CNVs?

A

comparative genome hybridization and FISH

23
Q

How does FISH identify CNVs?

A

fluorescent probe

24
Q

What are ASOs?

A

allele specific oligonucleotides

25
Q

What are ASOs used to specifically identify?

A

SNPs

26
Q

Malignant hyperthermia features what defective protein?

A

ryanodine receptor

27
Q

What two drugs can exacerbate malignant hyperthermia?

A

halothane and succinyl choline

28
Q

What is the mechanism of action for warfarin?

A

Vitamin K epoxide reductase

29
Q

What enzyme degrades warfarin?

A

CYP2C9

30
Q

What happens to warfarin levels with a mutation in CYP2C9?

A

levels rise

31
Q

What cell produces antibodies?

A

B-cells

32
Q

What is a sandwich ELISA used to quantify?

A

antigens

33
Q

A sandwich ELISA is used to quantify which three human proteins?

A

PTH, CRP, HbA1c

34
Q

What is an indirect ELISA used to quantify?

A

antibodies

35
Q

What size of fragment does CGH detect?

A

kilo to mega base range

36
Q

Does prenatal screening carry a risk of spontaneous abortion?

A

yes. 2-3%

Biochem V (11 decks)

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